1
TITLE: Assessment of oxidation compounds in oaked Chardonnay wines: A GC-MS and H-1 NMR metabolomics approach  Full Text
AUTHORS: Joana Pinto; Ana Sofia Oliveira; Joana Azevedo; Victor De Freitas ; Paulo Lopes; Isabel Roseira; Miguel Cabral; Paula Guedes de Pinho ;
PUBLISHED: 2018, SOURCE: FOOD CHEMISTRY, VOLUME: 257
INDEXED IN: Scopus WOS CrossRef: 22
2
TITLE: Dieta mediterrânica e genómica nutricional: potencialidades e desafios
AUTHORS: Ivo Barbedo Faria; Cláudia Silva; Maria Gil Ribeiro;
PUBLISHED: 2017, SOURCE: Acta Portuguesa de Nutrição, VOLUME: 11
INDEXED IN: CrossRef: 12
IN MY: ORCID
3
TITLE: Topology and Membrane Anchoring of the Lysosomal Storage Disease-Related Protein CLN5  Full Text
AUTHORS: Heidi Larkin; Maria Gil Ribeiro; Christine Lavoie;
PUBLISHED: 2013, SOURCE: HUMAN MUTATION, VOLUME: 34, ISSUE: 12
INDEXED IN: Scopus WOS CrossRef
4
TITLE: Accumulation of Ordered Ceramide-Cholesterol Domains in Farber Disease Fibroblasts
AUTHORS: Natalia Santos Ferreira; Michal Goldschmidt-Arzi; Helena Sabanay; Judith Storch; Thierry Levade; Maria Gil Ribeiro; Lia Addadi; Anthony H Futerman;
PUBLISHED: 2013, SOURCE: JIMD Reports - JIMD Reports - Volume 12
INDEXED IN: CrossRef: 14
IN MY: ORCID
5
TITLE: The Neuronal Ceroid Lipofuscinosis Protein CLN5: New Insights into Cellular Maturation, Transport, and Consequences of Mutations  Full Text
AUTHORS: Mia Lisa Schmiedt; Carlos Bessa ; Claudia Heine; Maria Gil Ribeiro; Anu Jalanko; Aija Kyttala;
PUBLISHED: 2010, SOURCE: HUMAN MUTATION, VOLUME: 31, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
6
TITLE: Molecular analysis of mucopolysaccharidosis type IIIB in Portugal: evidence of a single origin for a common mutation (R234C) in the Iberian Peninsula  Full Text
AUTHORS: Mangas, M; Nogueira, C; Prata, MJ ; Lacerda, L; Coll, MJ; Soares, G; Ribeiro, G; Amaral, O; Ferreira, C; Alves, C; Coutinho, MF; Alves, S;
PUBLISHED: 2008, SOURCE: CLINICAL GENETICS, VOLUME: 73, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 14
IN MY: ORCID
7
TITLE: CLN2/TPP1 deficiency: The novel mutation IVS7-10A>G causes intron retention and is associated with a mild disease phenotype  Full Text
AUTHORS: Bessa, C; Teixeira, CA; Dias, A; Alves, M; Rocha, S; Lacerda, L; Loureiro, L; Guimaraes, A; Ribeiro, MG;
PUBLISHED: 2008, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 93, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
8
TITLE: Molecular characterization of Portuguese patients with mucopolysaccharidosis type II shows evidence that the IDS gene is prone to splicing mutations  Full Text
AUTHORS: Alves, S; Mangas, M; Prata, MJ ; Ribeiro, G; Lopes, L; Ribeiro, H; Pinto Basto, J; Reis R Lima; Lacerda, L;
PUBLISHED: 2006, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 29, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef: 31
IN MY: ORCID
9
TITLE: Two novel CLN5 mutations in a Portuguese patient with vLINCL: Insights into molecular mechanisms of CLN5 deficiency  Full Text
AUTHORS: Bessa, C; Teixeira, CAF; Mangas, M; Dias, A; Sa C S Miranda ; Guimaraes, A; Ferreira, JC; Canas, N; Cabral, P; Ribeiro, MG;
PUBLISHED: 2006, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 89, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
10
TITLE: Gene expression profiling in vLINCL CLN6-deficient fibroblasts: Insights into pathobiology  Full Text
AUTHORS: Teixeira, CAF; Lin, S; Mangas, M; Quinta, R; Bessa, CJP; Ferreira, C; Sa C S Miranda ; Boustany, RMN; Ribeiro, MG;
PUBLISHED: 2006, SOURCE: BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, VOLUME: 1762, ISSUE: 7
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
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